Article
Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary Findings.
European journal of neurology - 1 Nov 2025
Lopergolo Diego, Gasparini Daniele, Bianchi Silvia, Pucci Barbara, Tripodi Domenico, Leoni Valerio, Chincarini Andrea, Sestini Stelvio, Zetterberg Henrik, De Stefano Nicola, Mignarri Andrea
Abstract excerpt
INTRODUCTION: Several studies have previously demonstrated an increased risk of dementia and brain amyloid deposition in individuals with heterozygous NPC1 mutations. Moreover, in a recent study, we identified the first family with autosomal dominant late-onset Alzheimer's disease (AD) caused by a heterozygous NPC1 mutation. Unfortunately, there are currently no effective treatments available for this condition....
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